Department of Pathology, John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI (JMNS, CL, KV).
Department of Internal Medicine, John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI (TO).
Hawaii J Health Soc Welf. 2023 Sep;82(9):208-212.
Angiosarcoma is an uncommon malignant mesenchymal neoplasm, accounting for 1-2% of all sarcomas. More than half are cutaneous, with the remainder arising in the deep soft tissue, breast, bone or viscera, particularly the liver, spleen and heart. Mediastinal angiosarcomas are exceedingly uncommon. While epithelioid morphology is sometimes a minor component in conventional angiosarcoma, tumors with a predominance of epithelioid morphologic features are designated as epithelioid angiosarcoma (EAS). This is a report of a 58-year-old woman presenting with severe chest pain, accompanied by worsening dyspnea and dysphagia. Chest computed tomography (CT) revealed a large pericardial effusion and a bulky mediastinal mass. Biopsy revealed a malignant neoplasm with vascular differentiation consistent with high-grade EAS. By immunohistochemistry, epithelioid angiosarcomas express endothelial cell markers, such as CD31, CD34, ERG and FLI-1. A variable proportion express low molecular weight cytokeratin (CK), epithelial membrane antigen (EMA) and CD30. The use of molecular techniques has proven useful in the diagnosis of this rare neoplasm. Targeted next generation sequencing showed aberrations in multiple genes including NRAS, KRAS, MYC and TP53.
血管肉瘤是一种罕见的恶性间叶性肿瘤,占所有肉瘤的 1-2%。超过一半的是皮肤血管肉瘤,其余的发生在深部软组织、乳房、骨骼或内脏,特别是肝脏、脾脏和心脏。纵隔血管肉瘤非常罕见。虽然上皮样形态学有时是传统血管肉瘤的一个次要成分,但以上皮样形态特征为主的肿瘤被指定为上皮样血管肉瘤(EAS)。这是一例 58 岁女性的报告,表现为严重胸痛,伴有呼吸困难和吞咽困难加重。胸部计算机断层扫描(CT)显示大量心包积液和纵隔肿块。活检显示一种具有血管分化的恶性肿瘤,符合高级别 EAS。免疫组化染色显示上皮样血管肉瘤表达内皮细胞标志物,如 CD31、CD34、ERG 和 FLI-1。不同比例的肿瘤表达低分子量细胞角蛋白(CK)、上皮膜抗原(EMA)和 CD30。分子技术的应用已被证明对这种罕见肿瘤的诊断有用。靶向下一代测序显示多个基因包括 NRAS、KRAS、MYC 和 TP53 存在异常。